Pendergast S D, Trese M T, Shastry B S
William Beaumont Eye Institute, Royal Oak, Michigan, USA.
Retina. 1997;17(4):306-9. doi: 10.1097/00006982-199707000-00005.
Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular anomaly characterized by congenital persistent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma.
The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. Molecular genetic analysis of the Norrie's disease gene was performed.
After vitrectomy, the posterior poles of both eyes were reattached successfully. No abnormalities of the Norrie's disease gene were identified.
Bilateral exudative vitreoretinopathy is a rare ophthalmic manifestation associated with cutis marmorata telangiectatica congenita.
先天性大理石样皮肤毛细血管扩张症是一种罕见的皮肤网状血管异常，其特征为先天性持续性大理石样皮肤、毛细血管扩张和静脉扩张。虽然系统性异常常与先天性大理石样皮肤毛细血管扩张症相关，但眼部异常相当罕见，包括先天性青光眼以及先天性双侧完全性视网膜脱离伴继发性青光眼。
作者报告了1例患有先天性大理石样皮肤毛细血管扩张症的女童，其双侧牵引性视网膜脱离伴周边纤维血管增生，类似家族性渗出性玻璃体视网膜病变。对诺里病基因进行了分子遗传学分析。
玻璃体切除术后，双眼后极部均成功复位。未发现诺里病基因异常。
双侧渗出性玻璃体视网膜病变是先天性大理石样皮肤毛细血管扩张症相关的一种罕见眼部表现。
